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1,312 Possible Causes for Dysmorphic Face, Flat Facial Profile, Wide Space Between the First and Second Toe

  • Down Syndrome

    A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and[kidshealth.org] spacing, often with a deep plantar groove between the first and second toes.[doi.org]

  • Robinow Syndrome

    ... characterized by craniofacial abnormalities, genital hypoplasia, spinal cord malformations and skeletal dysplasia ... macrocephaly with a flat facial profile, hypertelorism[ibis-birthdefects.org] The dysmorphic face was characterized by low set ears, flat-saddle nose, hypertelorism, elevated tip of nose and fish mouth ( Figure 1 ).[thritajournal.com] facial profile, a long philtrum (Fig 1), hyperplastic alveolar ridges, a small upturned nose, a hypoplastic clitoris, short forearms, absence of the upper lacrimal puncta[jamanetwork.com]

    Missing: Wide Space Between the First and Second Toe
  • Skeletal Dysplasia

    Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands.[emedicine.medscape.com] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com]

    Missing: Wide Space Between the First and Second Toe
  • Seckel Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] face (bird-like), and mild to severe intellectual disability.[orpha.net] A dysmorphic face with a receding chin and a relatively big nose could also render mask ventilation difficult. [11] Dental malocclusion, receding chin, high palatal arch could[joacp.org]

    Missing: Flat Facial Profile
  • Russell-Silver Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] […] and further dysmorphisms.[ncbi.nlm.nih.gov] The photographs show how development of a rounder face in females and jaw growth in males lessens the dysmorphic features with age.[jmg.bmj.com]

    Missing: Flat Facial Profile
  • Atelosteogenesis Type 2

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands.[thehealthscience.com] , and mental retardation, see genitopatellar syndrome absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, see RAPADILINO[mygenomics.com]

  • SHORT Syndrome

    Kids and teens with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue.[kidshealth.org] We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular[ncbi.nlm.nih.gov] How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and[kidshealth.org]

    Missing: Wide Space Between the First and Second Toe
  • Autosomal-Recessive Robinow Syndrome

    The dysmorphic face was characterized by low set ears, flat-saddle nose, hypertelorism, elevated tip of nose and fish mouth ( Figure 1 ).[thritajournal.com] Abstract Introduction: Robinow syndrome (RS) is an infrequent genetic condition that is characterized by a dysmorphic face, dental anomaly, short stature, mesomelic limb shortening[thritajournal.com] Introduction Robinow syndrome (RS) is an infrequent genetic condition that is characterized by a dysmorphic face, dental anomaly, short stature, mesomelic limb shortening,[thritajournal.com]

    Missing: Wide Space Between the First and Second Toe
  • Smith Lemli Opitz Syndrome

    A characteristic craniofacial pattern profile was universally present: narrow forehead, brachycephaly, short palpebral fissures, short nasal ridge, anteverted nares, flat[ncbi.nlm.nih.gov] We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[endocrine-abstracts.org] Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation[rgd.mcw.edu]

    Missing: Wide Space Between the First and Second Toe
  • Williams-Beuren Syndrome

    Infants have full cheeks and a flat facial profile, whereas older children and adults often have a long narrow face and a long neck. 10,11 Blue- and green-eyed children with[pediatrics.aappublications.org] It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits[ncbi.nlm.nih.gov] She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe